Linked Data
ClinVar Variation Id:
202667
dbSNP Id:
rs370809363
ExAC:
2:179480163 T / C
gnomAD v2:
2-179480163-T-C
gnomAD v3:
2-178615436-T-C
gnomAD v4:
2-178615436-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178615436T>C , CM000664.2:g.178615436T>C | GRCh38 |
| NC_000002.11:g.179480163T>C , CM000664.1:g.179480163T>C | GRCh37 |
| NC_000002.10:g.179188408T>C | NCBI36 |
| NG_011618.3:g.220367A>G , LRG_391:g.220367A>G | |
| NG_051363.1:g.97610T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40805A>G (TTN) | ENSP00000343764.6:p.Asn13602Ser | |
| ENST00000342175.11:c.21890A>G (TTN) | ENSP00000340554.6:p.Asn7297Ser | |
| ENST00000359218.10:c.21689A>G (TTN) | ENSP00000352154.5:p.Asn7230Ser | |
| ENST00000342175.10:c.21890A>G (TTN) | ENSP00000340554.6:p.Asn7297Ser | |
| ENST00000342992.10:c.40805A>G (TTN) | ENSP00000343764.6:p.Asn13602Ser | |
| ENST00000359218.9:c.21689A>G (TTN) | ENSP00000352154.5:p.Asn7230Ser | |
| ENST00000460472.6:c.21314A>G (TTN) | ENSP00000434586.1:p.Asn7105Ser | |
| ENST00000589042.5:c.48509A>G (TTN) MANE Select | ENSP00000467141.1:p.Asn16170Ser | |
| ENST00000591111.5:c.43586A>G (TTN) | ENSP00000465570.1:p.Asn14529Ser | |
| ENST00000615779.4:c.43586A>G (TTN) | ENSP00000483597.1:p.Asn14529Ser | |
| NM_001256850.1:c.43586A>G (TTN) | NP_001243779.1:p.Asn14529Ser | |
| NM_001267550.2:c.48509A>G (TTN) MANE Select | NP_001254479.2:p.Asn16170Ser | |
| NM_003319.4:c.21314A>G (TTN) | NP_003310.4:p.Asn7105Ser | |
| NM_133378.4:c.40805A>G (TTN) | NP_596869.4:p.Asn13602Ser | |
| NM_133432.3:c.21689A>G (TTN) | NP_597676.3:p.Asn7230Ser | |
| NM_133437.4:c.21890A>G (TTN) | NP_597681.4:p.Asn7297Ser | |
| NR_038271.1:n.1604+62T>C (TTN-AS1) | ||
| XM_011511729.1:c.47606A>G (TTN) | XP_011510031.1:p.Asn15869Ser | |
| XM_011511730.1:c.21500A>G (TTN) | XP_011510032.1:p.Asn7167Ser | |
| XM_011511731.1:c.21359A>G (TTN) | XP_011510033.1:p.Asn7120Ser | |
| XM_017004819.1:c.47402A>G (TTN) | XP_016860308.1:p.Asn15801Ser | |
| XM_017004820.1:c.42800A>G (TTN) | XP_016860309.1:p.Asn14267Ser | |
| XM_017004821.1:c.42797A>G (TTN) | XP_016860310.1:p.Asn14266Ser | |
| XM_017004822.1:c.39839A>G (TTN) | XP_016860311.1:p.Asn13280Ser | |
| XM_017004823.1:c.21455A>G (TTN) | XP_016860312.1:p.Asn7152Ser | |
| XM_024453094.1:c.42950A>G (TTN) | XP_024308862.1:p.Asn14317Ser | |
| XM_024453095.1:c.42947A>G (TTN) | XP_024308863.1:p.Asn14316Ser | |
| XM_024453096.1:c.42380A>G (TTN) | XP_024308864.1:p.Asn14127Ser | |
| XM_024453097.1:c.39722A>G (TTN) | XP_024308865.1:p.Asn13241Ser | |
| XM_024453098.1:c.39641A>G (TTN) | XP_024308866.1:p.Asn13214Ser | |
| XM_024453099.1:c.21404A>G (TTN) | XP_024308867.1:p.Asn7135Ser | |
| XM_024453100.1:c.11258A>G (TTN) | XP_024308868.1:p.Asn3753Ser |